| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities +5 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Brain atrophy +6 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Brain atrophy +6 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene